Muhammad Ansar

机构：Dow University of Health Sciences, Institut thématique Génétique, génomique et bioinformatique, Fondation Asile des Aveugles, University of Lausanne · ORCID：0000-0001-7299-3185

发表论文 75 篇 · 总被引 1167 次 · h-index 19

代表论文

• Exploring the pathological mechanisms underlying Cohen syndrome (2024 · Frontiers in Neuroscience · 被引 14)
• A comprehensive genetic landscape of inherited retinal diseases in a large Pakistani cohort (2025 · npj Genomic Medicine · 被引 12)
• Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expression (2024 · The American Journal of Human Genetics · 被引 7)
• Characterization of Vps13b-mutant mice reveals neuroanatomical and behavioral phenotypes with females less affected (2023 · Neurobiology of Disease · 被引 7)
• ELFN1 deficiency: The mechanistic basis and phenotypic spectrum of a neurodevelopmental disorder with epilepsy (2025 · Genetics in Medicine · 被引 3)
• Bi-allelic variants in BRF2 are associated with perinatal death and craniofacial anomalies (2025 · Genome Medicine · 被引 3)